Mouse Genome Informatics
ht
    Acvr1tm1Emsh/Acvr1+
chimera involves: BALB/c * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
• short broad femoral neck
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
• some mice exhibit fusion of the posterior facet joints of the subaxial cervical vertebrae
• malformation of costovertebral joints and ribs
• early degenerative joint disease
• fusion of thoracic and lumbar vertebrae
• in skeletal muscles
• cardiotoxin-induced skeletal muscle injury triggers heterotropic ossification
• extraskeletal bone formation occurs by an endochondral process
• ankylosed joints at 6 to 8 weeks

cellular
• in degenerating muscle and connective tissue with abundant immune cell infiltration prior to ossified lesion formation

homeostasis/metabolism
• swelling in soft tissue

immune system
• inflammatory response followed by fibroproliferation in degenerating muscle and connective tissue

limbs/digits/tail
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
• short broad femoral neck

muscle
• due to apoptosis and possibly some necrosis

behavior/neurological
• at 6 to 8 weeks, most mice exhibit severe physical disability with limited mobility and difficulty in movement

tumorigenesis
• commonly in the proximal medial tibias, but also in the humerus and femur

Mouse Models of Human Disease
OMIM IDRef(s)
Fibrodysplasia Ossificans Progressiva; FOP 135100 J:194134